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This gene encodes a member of a small calcium-binding EF-hand protein family. The encoded protein is thought to have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction events. [provided by RefSeq, Jun 2010]
NUCB1 (Nucleobindin 1) is a Protein Coding gene. Diseases associated with NUCB1 include Ataxia, Sensory, 1, Autosomal Dominant and Immature Cataract. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is NUCB2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001965 | G-protein alpha-subunit binding | ISS | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0005085 | guanyl-nucleotide exchange factor activity | ISS | -- |
GO:0005509 | calcium ion binding | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 24136289 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | TAS,HDA | 16502470 |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005769 | early endosome | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007264 | small GTPase mediated signal transduction | ISS | -- |
GO:0043687 | post-translational protein modification | TAS | -- |
GO:0044267 | cellular protein metabolic process | TAS | -- |
GO:0072718 | response to cisplatin | IEA | -- |
GO:1903533 | regulation of protein targeting | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium citrate | Approved, Investigational | Pharma | Target, ligand | 0 | ||
Calcium Phosphate | Approved | Pharma | Target, ligand | 0 | ||
Calcium phosphate dihydrate | Approved | Pharma | Target | 0 | ||
S,S-Propylthiocysteine | Experimental | Pharma | Target | 0 | ||
Thymidine-3',5'-Diphosphate | Experimental | Pharma | Target | 0 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
ExUns: | 13a | · | 13b |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: | |||
SP5: | |||
SP6: | |||
SP7: | |||
SP8: | |||
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NUCB1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NUCB1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NUCB1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nucb1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nucb1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | NUCB1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NUCB1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NUCB1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nucb1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.23574 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nucb1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | NUCB1 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | nucb-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6711 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs200372110 | - | p.Arg399Gln | |||
rs35456905 | - | p.Met338Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
ataxia, sensory, 1, autosomal dominant |
|
|
immature cataract |
|
|
spindle cell hemangioma |
|
|